Incidental Mutation 'R4746:Gnb1'
| ID |
356718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnb1
|
| Ensembl Gene |
ENSMUSG00000029064 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta 1 |
| Synonyms |
|
| MMRRC Submission |
041968-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155575818-155643726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155627531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 104
(A104E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030940]
[ENSMUST00000105616]
[ENSMUST00000165335]
[ENSMUST00000176411]
[ENSMUST00000176637]
[ENSMUST00000177094]
|
| AlphaFold |
P62874 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030940
AA Change: A104E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030940
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
1.06e-3 |
SMART |
|
WD40
|
132 |
170 |
1.93e-6 |
SMART |
|
WD40
|
173 |
212 |
1.23e-8 |
SMART |
|
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
WD40
|
257 |
298 |
1.88e-4 |
SMART |
|
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105616
AA Change: A104E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101241
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
1.06e-3 |
SMART |
|
WD40
|
132 |
170 |
1.93e-6 |
SMART |
|
WD40
|
173 |
212 |
1.23e-8 |
SMART |
|
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
WD40
|
257 |
298 |
1.88e-4 |
SMART |
|
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165335
AA Change: A104E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130123
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
1.06e-3 |
SMART |
|
WD40
|
132 |
170 |
1.93e-6 |
SMART |
|
WD40
|
173 |
212 |
1.23e-8 |
SMART |
|
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
WD40
|
257 |
298 |
1.88e-4 |
SMART |
|
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175705
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176411
AA Change: A104E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135769
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
Blast:WD40
|
86 |
108 |
5e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176637
AA Change: A104E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135091
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
1.06e-3 |
SMART |
|
WD40
|
132 |
170 |
1.93e-6 |
SMART |
|
WD40
|
173 |
212 |
1.23e-8 |
SMART |
|
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
WD40
|
257 |
298 |
1.88e-4 |
SMART |
|
WD40
|
301 |
340 |
3.55e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177094
AA Change: A104E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135492
Gene: ENSMUSG00000029064
AA Change: A104E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
44 |
83 |
1.05e-7 |
SMART |
|
WD40
|
86 |
125 |
1.06e-3 |
SMART |
|
WD40
|
132 |
170 |
1.93e-6 |
SMART |
|
WD40
|
173 |
212 |
1.23e-8 |
SMART |
|
WD40
|
215 |
254 |
5.06e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Heterozygous null mice have an abnormal retina morphology with progressive degeneration. Mice homozygous for a mutation of this gene show prenatal or perinatal lethality with exencephaly and/or small brain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
G |
A |
2: 152,282,685 (GRCm39) |
S180N |
probably benign |
Het |
| Atp5f1a |
G |
T |
18: 77,866,442 (GRCm39) |
G165V |
probably benign |
Het |
| Cbfa2t2 |
A |
C |
2: 154,365,845 (GRCm39) |
M352L |
possibly damaging |
Het |
| Ccser2 |
A |
T |
14: 36,631,082 (GRCm39) |
D98E |
probably damaging |
Het |
| Cfap20 |
A |
G |
8: 96,148,684 (GRCm39) |
|
probably null |
Het |
| Chuk |
A |
T |
19: 44,077,210 (GRCm39) |
C379S |
possibly damaging |
Het |
| Cic |
G |
A |
7: 24,987,905 (GRCm39) |
G1531E |
probably damaging |
Het |
| Ckap4 |
A |
G |
10: 84,369,384 (GRCm39) |
V116A |
possibly damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,107,756 (GRCm39) |
K71E |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,359,080 (GRCm39) |
I210N |
probably benign |
Het |
| Donson |
A |
C |
16: 91,479,125 (GRCm39) |
V397G |
probably damaging |
Het |
| Dpy19l1 |
C |
A |
9: 24,361,966 (GRCm39) |
V332L |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,379,080 (GRCm39) |
S1343P |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,254,120 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
G |
5: 31,344,997 (GRCm39) |
I550T |
probably damaging |
Het |
| Fbxo47 |
A |
T |
11: 97,770,254 (GRCm39) |
V46D |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptg |
ATTGTTGATGATTT |
AT |
17: 25,454,571 (GRCm39) |
|
probably benign |
Het |
| Htra4 |
A |
T |
8: 25,523,713 (GRCm39) |
V284E |
probably damaging |
Het |
| Igkv3-3 |
A |
T |
6: 70,664,308 (GRCm39) |
D50V |
probably benign |
Het |
| Irs3 |
A |
G |
5: 137,642,209 (GRCm39) |
S410P |
probably benign |
Het |
| Kif26b |
C |
T |
1: 178,701,546 (GRCm39) |
Q642* |
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,355,176 (GRCm39) |
M215K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,626 (GRCm39) |
N337S |
possibly damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,514 (GRCm39) |
A170V |
probably damaging |
Het |
| Marchf3 |
A |
T |
18: 56,909,144 (GRCm39) |
W214R |
probably damaging |
Het |
| Megf11 |
A |
C |
9: 64,416,027 (GRCm39) |
T79P |
probably damaging |
Het |
| Mia3 |
A |
G |
1: 183,126,663 (GRCm39) |
V26A |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,195,955 (GRCm39) |
F353S |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,970,634 (GRCm39) |
|
probably null |
Het |
| Ocstamp |
T |
C |
2: 165,238,208 (GRCm39) |
K352R |
probably benign |
Het |
| Or2t35 |
A |
T |
14: 14,407,359 (GRCm38) |
I46F |
probably benign |
Het |
| Or8b12 |
G |
T |
9: 37,657,453 (GRCm39) |
V8L |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,305,654 (GRCm39) |
N434S |
probably damaging |
Het |
| Pign |
A |
C |
1: 105,512,749 (GRCm39) |
L645V |
probably benign |
Het |
| Polr1has |
A |
T |
17: 37,275,765 (GRCm39) |
I116L |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,626,500 (GRCm39) |
S1540P |
probably benign |
Het |
| Ppp2r3c |
A |
T |
12: 55,349,420 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,082,236 (GRCm39) |
V414A |
possibly damaging |
Het |
| Pyroxd2 |
G |
A |
19: 42,740,839 (GRCm39) |
R22* |
probably null |
Het |
| Rab11fip2 |
G |
A |
19: 59,925,542 (GRCm39) |
A225V |
probably damaging |
Het |
| Ranbp2 |
C |
T |
10: 58,328,492 (GRCm39) |
A2836V |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,449,591 (GRCm39) |
R28* |
probably null |
Het |
| Scyl3 |
G |
A |
1: 163,776,820 (GRCm39) |
R404Q |
probably damaging |
Het |
| Slc9a8 |
A |
T |
2: 167,283,090 (GRCm39) |
K79* |
probably null |
Het |
| Sowaha |
A |
T |
11: 53,370,163 (GRCm39) |
|
probably null |
Het |
| Tnk1 |
A |
G |
11: 69,745,992 (GRCm39) |
V311A |
probably damaging |
Het |
| Tnrc6a |
T |
A |
7: 122,789,220 (GRCm39) |
S1680T |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,158 (GRCm39) |
Y335C |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,162,340 (GRCm39) |
V308A |
probably benign |
Het |
| Ttll3 |
A |
C |
6: 113,384,353 (GRCm39) |
Q557P |
probably damaging |
Het |
| Ulk3 |
G |
A |
9: 57,500,201 (GRCm39) |
A266T |
probably benign |
Het |
| Wfdc6b |
C |
A |
2: 164,459,353 (GRCm39) |
C138* |
probably null |
Het |
|
| Other mutations in Gnb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01405:Gnb1
|
APN |
4 |
155,627,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02052:Gnb1
|
APN |
4 |
155,618,148 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Gnb1
|
APN |
4 |
155,641,631 (GRCm39) |
splice site |
probably null |
|
|
IGL02470:Gnb1
|
APN |
4 |
155,611,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL02928:Gnb1
|
APN |
4 |
155,637,863 (GRCm39) |
missense |
probably benign |
|
|
IGL03293:Gnb1
|
APN |
4 |
155,625,004 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Gnb1
|
UTSW |
4 |
155,636,146 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0325:Gnb1
|
UTSW |
4 |
155,636,140 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1538:Gnb1
|
UTSW |
4 |
155,636,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3498:Gnb1
|
UTSW |
4 |
155,639,483 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4177:Gnb1
|
UTSW |
4 |
155,625,113 (GRCm39) |
intron |
probably benign |
|
|
R4833:Gnb1
|
UTSW |
4 |
155,627,524 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5727:Gnb1
|
UTSW |
4 |
155,639,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6958:Gnb1
|
UTSW |
4 |
155,627,651 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7022:Gnb1
|
UTSW |
4 |
155,637,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Gnb1
|
UTSW |
4 |
155,639,482 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9217:Gnb1
|
UTSW |
4 |
155,625,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACGTATGCCATCACACCTATC -3'
(R):5'- AGCAGTATACATCCCAGTTAGCAG -3'
Sequencing Primer
(F):5'- GAGACAGTTTTACTATGGAGCCC -3'
(R):5'- GTTAGCAGCTTACACCACTGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation